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School of Medicine
Charlotte Sumner, M.D., Investigator
Dr. Sumner is an Assistant Professor of Neurology at Johns Hopkins. She cares for patients with inherited diseases of motor neurons and peripheral nerves such as spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease. Dr. Sumner's research focuses on the molecular pathogenesis of SMA with particular attention to therapeutics development for this disorder. Recent work has explored the efficacy of histone deacetylase inhibitors in SMA.
Dr. Sumner’s Recent Research
- Mutations in TRPV4 Cause Charcot-Marie-Tooth Disease Type 2C
- Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
- Progress and Promise: The Current Status of Spinal Muscular Atrophy Therapeutics
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